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1.

rs147394623 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>G [Show Flanks]
    Chromosome:
    1:26438228 (GRCh38)
    1:26764719 (GRCh37)
    Canonical SPDI:
    NC_000001.11:26438227:A:G
    Gene:
    DHDDS (Varview)
    Functional Consequence:
    5_prime_UTR_variant,missense_variant,coding_sequence_variant
    Clinical significance:
    pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    G=0.000288/56 (ALFA)
    G=0.000025/2 (PAGE_STUDY)
    G=0.000113/30 (TOPMED)
    G=0.000124/15 (ExAC)
    G=0.00015/21 (GnomAD)
    G=0.000154/2 (GoESP)
    G=0.000235/59 (GnomAD_exomes)
    HGVS:
    NC_000001.11:g.26438228A>G, NC_000001.10:g.26764719A>G, NG_029786.1:g.10947A>G, NM_024887.4:c.124A>G, NM_024887.3:c.124A>G, NM_205861.3:c.124A>G, NM_205861.2:c.124A>G, NM_001319959.2:c.-179A>G, NM_001319959.1:c.-179A>G, NM_001243564.2:c.124A>G, NM_001243564.1:c.124A>G, NM_001243565.2:c.124A>G, NM_001243565.1:c.124A>G, XM_047430849.1:c.124A>G, XM_047430853.1:c.124A>G, XM_047430851.1:c.124A>G, XM_047430856.1:c.124A>G, XM_047430859.1:c.124A>G, XM_047430850.1:c.124A>G, XM_047430863.1:c.124A>G, XM_047430854.1:c.124A>G, XM_047430852.1:c.124A>G, XM_047430857.1:c.124A>G, XM_047430861.1:c.124A>G, XM_047430864.1:c.124A>G, XM_047430862.1:c.124A>G, XM_047430865.1:c.124A>G, XM_047430860.1:c.124A>G, NP_079163.2:p.Lys42Glu, NP_995583.1:p.Lys42Glu, NP_001230493.1:p.Lys42Glu, NP_001230494.1:p.Lys42Glu, XP_047286805.1:p.Lys42Glu, XP_047286809.1:p.Lys42Glu, XP_047286807.1:p.Lys42Glu, XP_047286812.1:p.Lys42Glu, XP_047286815.1:p.Lys42Glu, XP_047286806.1:p.Lys42Glu, XP_047286819.1:p.Lys42Glu, XP_047286810.1:p.Lys42Glu, XP_047286808.1:p.Lys42Glu, XP_047286813.1:p.Lys42Glu, XP_047286817.1:p.Lys42Glu, XP_047286820.1:p.Lys42Glu, XP_047286818.1:p.Lys42Glu, XP_047286821.1:p.Lys42Glu, XP_047286816.1:p.Lys42Glu

    LitVar

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